Many thanks to those of you who attended the UK Bioscience Forum earlier this week. And for those of you who couldn’t make it, or would like a refresher, we are pleased to be able to publish the first in a series of blogs from the event, starting with an account of one of the most inspirational and compelling sessions of the day.

“Being told that my 5 year old son was going to go blind was devastating” – those were the words of Emma Salisbury, a member of the panel for the ‘Helping Tommy – finding a treatment for Choroideremia’ session at the recent UK Bioscience Forum. Tommy was diagnosed with Choroideremia, an x-linked disorder inherited by males that causes the deterioration of sight, eventually leading to blindness – a disease most people can’t pronounce, let alone spell. Emma’s Grandfather went blind at an early age and she, her Mother and her daughter are carriers of the condition.

There are no approved therapies for Choroideremia and Emma couldn’t sit back and do nothing – she had to do something to help her son. She contacted Fight for Sight, the largest charity in the UK dedicated to funding eye research, and she, her family and her friends worked tirelessly to raise the money in order fund additional research into the disease. That funding was used to further some pioneering gene therapy work by Professor Miguel Seabra which led to a collaboration with Professor Robert MacLaren, a surgeon from Oxford University.

Dr Chris Hollowood, Syncona Partners

Syncona, a subsidiary of the Wellcome Trust, set up the company NighstaRx who are continuing this work, with six patients treated to date. Each patient is treated with a small virus known as an Adeno-associated Virus – an AAV – that has been modified to carry a working copy of the Choroideremia Gene. The retina is detached then a solution containing the virus is injected into the back of the eye. What is remarkable is that in all the patients the retina re-attached without incident, but what is more remarkable is the data!

Some of these data were published in the Lancet medical journal in January of this year and one of the patients, Jonathan Wyatt, talked to the BBC about the miraculous improvement: http://www.bbc.co.uk/news/health-25718064

After being treated he said:

“My left eye, which has always been the weaker one, was that which was treated as part of this trial…Now when I watch a football match on the TV, if I look at the screen with my left eye alone, it is as if someone has switched on the floodlights. The green of the pitch is brighter, and the numbers on the shirts are much clearer.”

Another treated patient, Wayne Thomson, gave NighstaRx its name. He told us:

“One night in the summer, my wife called me outside as it was a particularly starry evening. As I looked up, I was amazed that I was able to see a few stars. I hadn’t seen stars for a long, long time…”

During the session, Michele Acton, the CEO of Fight for Sight and Chris Hollowood and Melanie Lee, the Chairman and CEO of NighstaRx talked passionately about their hopes for the future of Choroideremia suffers like Tommy, and that one day there will be a cure for this devastating disease. The future is certainly looking brighter thanks to the gene therapy work being conducted by Professor MacLaren and his team in Oxford.